Zobrazeno 1 - 10
of 10
pro vyhledávání: '"SCA5, spinocerebellar ataxia type 5"'
Autor:
Robyn T. Rebbeck, Adam W. Avery, David D. Thomas, Anna K. Andrick, Bengt Svensson, Piyali Guhathakurta, Sarah A. Denha, Thomas S. Hays
Publikováno v:
The Journal of Biological Chemistry
Numerous diseases are linked to mutations in the actin-binding domains (ABDs) of conserved cytoskeletal proteins, including β-III-spectrin, α-actinin, filamin, and dystrophin. A β-III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd13ccfcd6f48ee724d62cab62765b5
https://pubmed.ncbi.nlm.nih.gov/33839680
https://pubmed.ncbi.nlm.nih.gov/33839680
Autor:
Radziwonik, Wiktoria, Elert-Dobkowska, Ewelina, Klimkowicz-Mrowiec, Aleksandra, Ziora-Jakutowicz, Karolina, Stepniak, Iwona, Zaremba, Jacek, Sulek, Anna
Publikováno v:
Journal of Applied Genetics; Sep2022, Vol. 63 Issue 3, p513-525, 13p
Autor:
Ayhan, Fatma, Perez, Barbara A., Shorrock, Hannah K., Zu, Tao, Banez‐Coronel, Monica, Reid, Tammy, Furuya, Hirokazu, Clark, H. Brent, Troncoso, Juan C., Ross, Christopher A., Subramony, S. H., Ashizawa, Tetsuo, Wang, Eric T., Yachnis, Anthony T., Ranum, Laura P. W.
Publikováno v:
EMBO Journal; Oct2018, Vol. 37 Issue 19, p1-1, 15p, 9 Color Photographs, 3 Black and White Photographs, 2 Charts, 2 Graphs
Autor:
Spagnoli, Carlotta1 (AUTHOR) carlotta.spagnoli@gmail.com, Rizzi, Susanna1 (AUTHOR), Salerno, Grazia Gabriella1 (AUTHOR), Frattini, Daniele1 (AUTHOR), Fusco, Carlo1,2 (AUTHOR)
Publikováno v:
Italian Journal of Pediatrics. 12/3/2019, Vol. 45 Issue 1, pN.PAG-N.PAG. 1p.
Autor:
Chopra, Ravi, Shakkottai, Vikram G
Publikováno v:
Future Neurology; Mar2014, Vol. 9 Issue 2, p187-196, 10p
Autor:
Gissen, Paul, Maher, Eamonn R.
Publikováno v:
Journal of Medical Genetics; Sep2007, Vol. 44 Issue 9, p545-555, 11p, 3 Diagrams, 1 Chart
Publikováno v:
Archives of Neurology; Apr2006, Vol. 63, p553-555, 3p
Autor:
Gale
A timely, comprehensive resource for students and other readers interested in the field of medical genetics.
Autor:
Laura Avery, Tracie Moy
According to the Human Genome Project, as well as numerous medical research groups, significant new findings on genetic disorders occur nearly every week. Information on many of these disorders, however, is extremely difficult to come by -- until now
Autor:
Brigham Narins
THE GALE ENCYCLOPEDIA OF NEUROLOGICAL DISORDERS, 2nd Edition is a two-volume set designed for allied health students, patients, and the general public. This title offers the user a comprehensive collection of interrelated articles on a wide range of